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Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC. Wong LJ, et al. Among authors: burton bk. Hum Mutat. 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. Hum Mutat. 2008. PMID: 18546365 Free PMC article.
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
Snijders Blok L, Verseput J, Rots D, Venselaar H, Innes AM, Stumpel C, Õunap K, Reinson K, Seaby EG, McKee S, Burton B, Kim K, van Hagen JM, Waisfisz Q, Joset P, Steindl K, Rauch A, Li D, Zackai EH, Sheppard SE, Keena B, Hakonarson H, Roos A, Kohlschmidt N, Cereda A, Iascone M, Rebessi E, Kernohan KD, Campeau PM, Millan F, Taylor JA, Lochmüller H, Higgs MR, Goula A, Bernhard B, Velasco DJ, Schmanski AA, Stark Z, Gallacher L, Pais L, Marcogliese PC, Yamamoto S, Raun N, Jakub TE, Kramer JM, den Hoed J, Fisher SE, Brunner HG, Kleefstra T. Snijders Blok L, et al. HGG Adv. 2022 Nov 1;4(1):100157. doi: 10.1016/j.xhgg.2022.100157. eCollection 2023 Jan 12. HGG Adv. 2022. PMID: 36408368 Free PMC article.
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program.
Harding CO, Longo N, Northrup H, Sacharow S, Singh R, Thomas JA, Vockley J, Zori RT, Bulloch Whitehall K, Lilienstein J, Lindstrom K, Levy DG, Jones S, Burton BK. Harding CO, et al. Among authors: burton bk. Mol Genet Metab Rep. 2024 Apr 23;39:101084. doi: 10.1016/j.ymgmr.2024.101084. eCollection 2024 Jun. Mol Genet Metab Rep. 2024. PMID: 38694233 Free PMC article.
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries.
Feillet F, Ficicioglu C, Lagler FB, Longo N, Muntau AC, Burlina A, Trefz FK, van Spronsen FJ, Arnoux JB, Lindstrom K, Lilienstein J, Clague GE, Rowell R, Burton BK; KAMPER and PKUDOS investigators. Feillet F, et al. Among authors: burton bk. J Inherit Metab Dis. 2024 Mar 3. doi: 10.1002/jimd.12724. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 38433424
Executive Control and Associated Brain Activity in Children With Familial High-Risk of Schizophrenia or Bipolar Disorder: A Danish Register-based Study.
Johnsen LK, Larsen KM, Fuglsang SA, Ver Loren van Themaat AH, Baaré WFC, Madsen KS, Madsen KH, Hemager N, Andreassen AK, Veddum L, Greve AN, Nejad AB, Burton BK, Gregersen M, Eichele H, Lund TE, Bliksted V, Thorup AAE, Mors O, Plessen KJ, Nordentoft M, Siebner HR. Johnsen LK, et al. Among authors: burton bk. Schizophr Bull. 2024 Apr 30;50(3):567-578. doi: 10.1093/schbul/sbad134. Schizophr Bull. 2024. PMID: 37756493 Free PMC article.
Pubertal timing, sex hormone levels, and associations between early life adversity and accelerated development amongst 11-year-old children of parents with schizophrenia or bipolar disorder and controls: The Danish high risk and Resilience study via 11.
Krantz MF, Frederiksen H, Hjorthøj C, Søndergaard A, Brandt JM, Rohd SB, Veddum L, Steffensen NL, Knudsen CB, Andreasen AK, Hemager N, Burton BK, Gregersen M, Greve AN, Ohland J, Bliksted V, Mors O, Thorup AAE, Juul A, Nordentoft M. Krantz MF, et al. Among authors: burton bk. Compr Psychoneuroendocrinol. 2023 Aug 23;16:100204. doi: 10.1016/j.cpnec.2023.100204. eCollection 2023 Nov. Compr Psychoneuroendocrinol. 2023. PMID: 37664528 Free PMC article.
248 results